Early myoclonic encephalopathy

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	Early myoclonic encephalopathy;
ICD-10	G 40.3
MeSH	D004831

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]

Synonyms and keywords: Neonatal myoclonic encephalopathy; infantile myclonic encephalopathy

Overview

Early myoclonic encephalopathy is a seizure disorder that occurs in the neonatal period. This disorder presents with features such as partial or fragmentary erratic myoclonic seizures, massive myoclonus, partial motor seizures (jerking movements of one side), and tonic seizures.

Classification

According to the International Classification of Epilepsies and Epileptic Syndromes, early myoclonic encephalopathy can be categorized as age related, and as generalized symptomatic epilepsy of a non specific etiology.^[1]

The two variants of early infantile epileptic encephalopathy are:

Early myoclonic encephalopathy
Ohtahara syndrome

Pathophysiology

Genetics

In most cases, the disease appears to be inherited in an autosomal recessive fashion.

Associated Conditions

Causes

The cause of early myoclonic encephalopathy is unknown.

Differentiating Early myoclonic encephalopathy from other Diseases

Early myoclonic encephalopathy has to be differentiated from a few other epilepsy syndromes due to similar presentation.

These similar epileptic syndromes include:

Differentiating features are:

Features/Disease	Early myoclonic encephalopathy	West syndrome	Lennox-Gastaut syndrome
Age at presentation	Early infancy	Infancy	Early childhood
Diverse seizures	May or may not be present	Not present	Present
Tonic spasms	May or may not be present	Present	Not present
Response to ACTH ^[2]	Poor	Good	Poor
Interictal EEG	Suppression bursts	Hypsarrhythmia	Diffuse slow spike wave

Differentiating Early myoclonic encephalopathy from Ohtahara syndrome:^[3]

Features/Disease	Early myoclonic encephalopathy	West syndrome
Etiology	Non structural or metabolic	Structural brain lesions
Clinical	Myoclonia and partial seizures	Tonic spasms
Suppression bursts(SB)	More apparent in sleep	Consistently seen in wakeful and sleep states
Course	SB's persist to childhood with transient transformation to hypsarrhythmia	Evolve to hypsarrhythmia and then to diffuse slow spike waves
Transformation	Persists for long period	Evolves to West syndrome and then to Lennox-Gastaut syndrome

Epidemiology and Demographics

Early myoclonic encephalopathy (EME) is a rare disease with only around 30 cases described so far.

Risk Factors

Risk factors include:

Structural brain lesion
Metabolic disturbances
Small for gestational age
Sepsis
Bleeding into brain(cerebral hemorrhage)

Screening

There is no screening procedure set forth for detecting early myoclonic encephalopathy.
Every child with a presentation of seizure (partial or complete) must undergo an EEG evaluation.

Natural History, Complications, and Prognosis

Natural History

Symptoms may occur as early as a few hours after birth, and postnatal movements are sometimes reported by the mother to be of the same type as those felt at the end of pregnancy. Other types of seizures, including partial seizures, massive myoclonia, and tonic spasms can also occur; usually around 3-4 months of age.

Complications

Severe neurological impairment
Mental retardation
Vegetative state

Prognosis

The prognosis for early myoclonic encephalopathy is poor. Children survive in a persistent vegetative state or die within the first or second year of life.

Diagnosis

Symptoms

Recurrent seizures
Developmental delay

Family History

There is a high risk of familial recurrence since in most cases the disease appears to be inherited as an autosomal recessive trait.
Consanguineous marriage of parents.

Birth History

History of complicated birth may be noticed
Post natal erratic movements
Poor sucking and swallowing

Physical Examination

Appearance of the Patient

Floppy due to hypotonia

Neurologic

Erratic myoclonus of face or extremities
Seizures
Severe developmental delay
Altered mental status

Laboratory Findings

Biomarker Studies

Acidosis may be noticed if any metabolic derangements coexist.
Biochemical tests of calcium, magnesium and glucose are needed to evaluate the cause of seizures.
High glycine levels may be detected if associated with Non-ketotic hyperglycinemia

CT and MRI

Identifying any structural brain lesions (malformations, tumors, bleeds)

Electroencephalogram (EEG)

Characteristic features on the EEG include:

Suppression bursts
- More apparent during sleep
Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy.^[4]

Treatment

Pharmacotherapy

There are no clear guidelines for the treatment of seizures.
Conventional drugs like valproate , clobazam , and lamotrigine are ineffective.
Alternative therapies like ACTH, a ketogenic diet, and zonisamide are beneficial for the treatment of Ohtahara syndrome
In patients with Non-ketotic hyperglycinemia, oral administration of ketamine, tryptophan, and dextromethorphan in combination with benzoate have brought partial improvement in symptoms and EEG findings.

Genetic Counseling

Genetic counseling may aid in the early diagnosis and prevention of EME to certain extent.

References

↑ "www.ilae.org" (PDF).
↑ Perheentupa J, Riikonen R, Dunkel L, Simell O (1986). "Adrenocortical hyporesponsiveness after treatment with ACTH of infantile spasms". Arch. Dis. Child. 61 (8): 750–3. PMC 1777931. PMID 3017239. Unknown parameter |month= ignored (help)
↑ Ohtahara S, Yamatogi Y (2006). "Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy". Epilepsy Res. 70 Suppl 1: S58–67. doi:10.1016/j.eplepsyres.2005.11.021. PMID 16829045. Unknown parameter |month= ignored (help)
↑ Ozyürek H, Turanli G, Aliefendioglu D, Coskun T (2005). "Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy". Neurol India. 53 (2): 235–7. PMID 16010070. Unknown parameter |month= ignored (help)

Template:WikiDoc Sources

[urlwww.ilae.org-1] "www.ilae.org" (PDF).

[pmid3017239-2] Perheentupa J, Riikonen R, Dunkel L, Simell O (1986). "Adrenocortical hyporesponsiveness after treatment with ACTH of infantile spasms". Arch. Dis. Child. 61 (8): 750–3. PMC 1777931. PMID 3017239. Unknown parameter |month= ignored (help)

[pmid16829045-3] Ohtahara S, Yamatogi Y (2006). "Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy". Epilepsy Res. 70 Suppl 1: S58–67. doi:10.1016/j.eplepsyres.2005.11.021. PMID 16829045. Unknown parameter |month= ignored (help)

[pmid16010070-4] Ozyürek H, Turanli G, Aliefendioglu D, Coskun T (2005). "Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy". Neurol India. 53 (2): 235–7. PMID 16010070. Unknown parameter |month= ignored (help)

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